Neurofibromatosis is a broad term used for three different genetic disorders all of which result in tumors on the tissues of the nerves. These tumors can occur anywhere on the nervous system, or beneath the skin or on the bones. It may also form on the eye. Neurofibromatosis is normally diagnosed in early childhood. In most cases, children inherit the defective mutated genes from their parents. However in certain cases it occurs through spontaneous mutation.
NF1, also known as Von Recklinghausen, is the most common type of Neurofibromatosis. NF1 can lead to symptoms ranging from mild to very severe. Some of the distinctive signs of Neurofibromatosis Type 1 include:
Physical examination and family history of the patient form the basis of the diagnosis of Neurofibromatosis Type1. Imaging tests such as x-ray, CT scan and MRI may also be ordered along with skin biopsy to confirm the diagnosis.
There is no cure for NF1; patients have to be monitored carefully on a regular basis to check for any sort of complications. Surgery is advised if the tumors are causing malformed bones. In very rare cases, the tumors become cancerous. Like any other cancers, these tumors are surgically removed and treated with chemotherapy or radiation.
Neurofibromatosis Type 2
Neurofibromatosis Type 2 is rare compared to NF1 and is characterized by multiple tumors on the cranial nerve that controls hearing and balance. These tumors are known as Vestibular Schwannomas and give rise to deafness and balance problems. Tumors may also develop on the spinal nerve and other peripheral nerves that control swallowing, speech, eye movements and facial sensations and eventually hamper their effective functioning. Patient may also develop weakness, numbness, or tingling in an arm or leg.
The symptoms of NF2 typically start in the teens or early twenties. Hearing loss beginning during adolescence is the first and most distinctive feature of Neurofibromatosis Type 2. Cataract that starts at an early age is also a strong indicator of NF2. Similar to NF1, NF2 is also caused by defective gene mutation.
There is no cure for NF2; however patients will be treated symptomatically. Regular monitoring of ear and eye functions is carried out to understand any further deterioration. MRI is advised at frequent intervals to assess the size of the tumors. If the tumors are growing in size, they may be removed surgically or shrunk through radiation.
Schwannomatosis is a rare form of Neurofibromatosis and it varies from NF1 and NF2 genetically and clinically. This condition causes tumors on nerves of the brain and spinal cord and nerves in the arms and legs. However Schwannomatosis never causes tumors on the vestibular nerve. Intense pain is a characteristic feature of Schwannomatosis. As tumors press on the nerves and tissues pain, numbness or tingling occurs in the affected parts of the body. There is no definite treatment for Schwannomatosis. Treatment plan includes pain management through medications and regular monitoring of the size of the tumors. Not all the tumors are ideal for surgical removal due to their delicate location. If it is feasible, surgical removal of tumors is the most effective method to manage pain.
Adrenal Gland Tumor
The adrenal gland is located on the superior portion of the kidney. It produces some of the most important hormones associated with body metabolism. Many metabolic pathways depend upon the adrenal gland functionality through its hormone production. Some of the significant hormones produced by the adrenal gland include aldosterone, cortisol, sex hormones and adrenaline. The adrenal gland comprises two distinctive regions cortex and medulla respectively. Each region of the adrenal gland produces different kinds of hormones.
Adrenal insufficiency is a disorder predominantly associated with the dysfunction of the adrenal cortex region. The intensity of this disorder can be represented as primary or secondary depending upon the impaired adrenal cortex and its functionality. Studies imply that autoimmune diseases such as Addison's disease are the predominant cause for the adrenal sufficiency. In the secondary condition of this disorder, the production of adrenocortico tropic hormone is reduced to a greater extent. Although autoimmune disorders play a major role in the adrenal insufficiencies, other causes such as infectious diseases, vascular impairments, congenital disorders and also iatrogenic causes lead to adrenal insufficiencies. These factors predominantly influence the production of glucocorticoids.
The adrenal insufficiencies associated with mineralocorticoids are caused because of underlying conditions such as corticosterone methyl oxidase deficiency, impairments in the Zona glomerulosa and treatments such as heparin therapy. The recommended treatment for adrenal insufficiency is usually through hormonal therapy. Care must be taken while administering hormones as it may induce side effects such as obesity. Hydrocortisone is administered to treat adrenal insufficiencies.
Adrenal Pheochromocytoma is a condition in which tumors are formed on the adrenal gland. These tumors occur predominantly on one adrenal gland as an unilateral condition. The bilateral condition is found only in rare cases. These tumors occur together with other disorders such as endocrine neoplasia type 2. Majority of these pheochromocytomas are benign in origin and only a few cases develop malignancy.
The symptoms of adrenal Pheochromocytoma include headaches, palpitation, profuse sweating, glucose intolerance, heat sensitivity and decreased blood pressure. Since pheochromocytomas are associated with variations in blood pressure, the diagnosis of the respective underlying condition is done by the determination of products obtained from the breakdown of adrenaline and noradrenaline. Other tests include the glucagon stimulation test for monitoring the blood pressure and the clonidine suppression test to detect the presence of tumors which lower the catecholamines. Confirmatory tests are done using radiological determination through CT scan and MRI scans.
Pheochromocytoma is treated with blood pressure lowering drugs such as alpha adrenergic blockers and the tumors associated are surgically removed. Post-operative care such as transfusion of fluids is given to patients who experience weakness because of low blood pressure.
Adrenal tumors are generally categorized into functional and nonfunctional depending upon their type. Tumors associated with the adrenal cortex fall into the functional category whereas the remaining part of the adrenal gland secreting mixed hormones such as sex hormones and aldosterone fall under the nonfunctional category. Metastases associated with adrenal gland are more prominent in the determination of preexisting neoplasms and underlying adrenal insufficiency. Adrenal tumors of the benign non-functional origin are also caused by other conditions such as amyloidosis and granuloma. The malignant nonfunctional tumors are caused by conditions such as neuroblastoma and lymphoma.
Adrenal tumors are identified by a careful examination of the patient history followed by biochemical and radiological investigations. Fine needle aspiration biopsy is advised for pathological determination of the existing tumor. Surgical procedures such as laparoscopic adrenalectomy have produced good results in the removal of adrenal tumors.
Bone tumor is an abnormal growth of cells within a bone. Bone tumors may be malignant or benign. Though the causes of bone tumors are unknown, some possible causes include hereditary or genetic defects, radiation and injury. In most cases, no specific cause is found. Osteochondromas is a most common non cancerous bone tumor which occurs in people between ages ten and twenty. While primary bone cancers start from bones, secondary or metastatic bone tumors start in another part of the body such as breast, kidney, lung, prostate and thyroid and spread. These forms of cancer usually affect older people.
Symptoms of bone cancer
Some common bone cancer symptoms include:
Diagnosis of bone cancer
After taking into account the complete medical history and performing a physical examination, the following diagnostic tests would be done.
Treatment of bone cancer
There are many treatment options for bone cancer depending upon the type of bone cancer and the location of the cancer. It also depends on whether or not the cancer has spread from the bone to surrounding tissues. Treatment options include surgery, chemotherapy and radiation therapy. These can be used individually or in combination with each other.
Although some benign bone tumors tend to go away on their own and hence do not require treatment, close monitoring is essential to see if the tumor shrinks or grows. In case of malignant tumors, surgery would become essential. The goal of surgery is to remove the entire tumor and its surrounding area or normal bone. A pathologist examines the tumor once removed to determine if there is normal bone completely surrounding the tumor. In case the cancer is left behind, chances are it can continue to grow and spread requiring further treatment.
Depending upon the size/amount of bone removed, the surgeon will replace either by bone cement or bone graft from another place in the body or from the bone bank. For larger areas, larger grafts from the bone bank or metal implants are done. Historically, amputation was the technique used to remove bone cancer. However, new techniques adopted have significantly decreased the need for amputation. Treatment for cancers that spread from other parts of the body would depend upon where the cancer started.
Bibliography / Reference
Collection of Pages - Last revised Date: February 16, 2019